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内部出版物
CNKI学位论文(309)
知网期刊论文(226)
在“
Elsevier电子期刊
”中,
命中:
230
条,耗时:小于0.01 秒
在所有数据库中总计命中:
535
条
1.
Autosomal recessive spinocerebellar
ataxia
20: Report of a new patient and review of literature
作者:
Anju Shukla
a
;
Priyanka Upadhyai
a
;
Jhanvi Shah
a
;
K. Neethukrishna
a
;
Stephanie Bielas
b
;
K.M. Girisha
a
;
girish.katta@manipal.edu
关键词:
Autosomal recessive spinocerebellar
ataxia
20
;
Hereditary
ataxia
;
SNX14
;
Autophagy
;
Cerebellar atrophy
刊名:European Journal of Medical Genetics
出版年:2017
2.
Diagnosis and management of adult
hereditary
cardio-neuromuscular disorders: A model for the multidisciplinary care of complex genetic disorders
作者:
R. Brian Sommerville
;
MD
a
;
Margherita Guzzi Vincenti
;
BS
b
;
Kathleen Winborn
;
RN
;
BSN
b
;
Anne Casey
;
RN
;
BSN
b
;
Nathan O. Stitziel
;
MD
;
PhD
b
;
Anne M. Connolly
;
MD
a
;
Douglas L. Mann
;
MD
b
;
dmann@dom.wustl.edu
关键词:
Neuromuscular disease
;
Heart failure
;
Heart disease
;
Multidisciplinary care
刊名:Trends in Cardiovascular Medicine
出版年:2017
3.
Dejerine: The concept of peripheral neuropathy
作者:
Jean-Michel Vallat
1
;
jean-michel.vallat@unilim.fr
;
Sté
;
phane Mathis
2
刊名:Revue Neurologique
出版年:2017
4.
Acute Cerebellar
Ataxia
: An Unusual Pediatric Case
作者:
Thanhnga T. Doan
;
BA
&lowast
;
;
Clifford P. Masom
;
MD
&lowast
;
;
Richard J. Mazzaccaro
;
MD
;
PhD
&dagger
;
;
Kathleen E. Kane
;
MD
&lowast
;
;
关键词:
pediatric
;
cerebellar
ataxia
刊名:Journal of Emergency Medicine
出版年:2016
5.
Consequences of irradiation on adult spermatogenesis: Between infertility and
hereditary
risk
作者:
Henri-Baptiste Marjault
;
Isabelle Allemand
;
isabelle.allemand@cea.fr
关键词:
ABCG2
;
ATP binding cassette subfamily G member 2
;
alt-EJ
;
alternative end joining
;
ATM
;
ataxia
telangiectasia mutated
;
ATR
;
ataxia
telangiectasia and Rad3 related
;
Aundiff
;
undifferentiated spermatogonia
;
DDR
;
DNA damage response
;
BAX
;
BCL2-associated X protein
;
DNA-PK
;
protein kinase DNA activated catalytic polypeptide
;
DSBs
;
DNA double-strand breaks
;
IR
;
ionizing radiation
;
GSCs
;
germinal stem cells
;
HSCs
;
hematopoietic stem cells
;
NHEJ
;
non-homologous end joining
;
MDC1
;
mediator of DNA damage
刊名:Mutation Research/Reviews in Mutation Research
出版年:2016
6.
Classifications of neurogenetic diseases: An increasingly complex problem
作者:
J.-M. Vallat
a
;
C. Goizet
b
;
M. Tazir
c
;
P. Couratier
a
;
L. Magy
a
;
S. Mathis
d
;
stephane.mathis@chu-poitiers.fr" class="auth_mail" title="E-mail the corresponding author
关键词:
Classification
;
Charcot&ndash
;
Marie&ndash
;
Tooth
;
HSAN
;
Spastic paraplegia
;
Cerebellar
ataxia
刊名:Revue Neurologique
出版年:2016
7.
Movement disorders in mitochondrial diseases
作者:
C. Tranchant
a
;
b
;
christine.tranchant@chru-strasbourg.fr" class="auth_mail" title="E-mail the corresponding author
;
M. Anheim
a
;
b
关键词:
Movement disorders
;
Mitochondrial diseases
;
Ataxia
;
Dystonia
;
Parkinsonism
;
Myoclonus
刊名:Revue Neurologique
出版年:2016
8.
Measurement Characteristics and Clinical Utility of the International Cooperative
Ataxia
Rating Scale in Individuals With
Hereditary
Ataxias
作者:
Maryleen K. Jones
;
PT
;
MPT
;
CLT
;
NCS
;
Stephanie A. Combs-Miller
;
PT
;
PhD
;
NCS
刊名:Archives of Physical Medicine and Rehabilitation
出版年:2016
9.
CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia
作者:
A. Kariminejad
a
;
arianakariminejad@yahoo.com" class="auth_mail" title="E-mail the corresponding author
;
L. Schö
;
ls
b
;
c
;
R. Schü
;
le
b
;
c
;
d
;
S.H. Tonekaboni
e
;
A. Abolhassani
a
;
M. Fadaee
a
;
R.O. Rosti
f
;
J.G. Gleeson
f
关键词:
Hereditary
spastic paraplegia
;
CYP2U1
;
SPG56
;
Complicated
;
Dystonia
;
Regression
刊名:European Journal of Paediatric Neurology
出版年:2016
10.
Otoneurological findings prevalent in
hereditary
ataxia
s
作者:
Bianca Simone Zeigelboim
1
;
Helio Afonso Ghizoni Teive
2
;
Geslaine Santos
3
;
Maria Izabel Severiano
3
;
Vinicius Ribas Fonseca
3
;
Joã
;
o Henrique Faryniuk
3
刊名:Parkinsonism & Related Disorders
出版年:2016
1
2
3
4
5
6
7
8
9
按检索点细分(230)
题名(46)
关键词(36)
文摘(171)
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2027年及以后(3)
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